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    FKBP2 FKBP prolyl isomerase 2 [ Homo sapiens (human) ]

    Gene ID: 2286, updated on 2-Nov-2024

    Summary

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    Official Symbol
    FKBP2provided by HGNC
    Official Full Name
    FKBP prolyl isomerase 2provided by HGNC
    Primary source
    HGNC:HGNC:3718
    See related
    Ensembl:ENSG00000173486 MIM:186946; AllianceGenome:HGNC:3718
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FKBP13; PPIase; FKBP-13
    Summary
    The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. This encoded protein is a cis-trans prolyl isomerase that binds the immunosuppressants FK506 and rapamycin. It is thought to function as an ER chaperone and may also act as a component of membrane cytoskeletal scaffolds. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2008]
    Expression
    Ubiquitous expression in kidney (RPKM 33.5), thyroid (RPKM 33.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FKBP2 in Genome Data Viewer
    Location:
    11q13.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (64241095..64244135)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (64231119..64234159)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (64008567..64011607)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902687 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3465 Neighboring gene DnaJ heat shock protein family (Hsp40) member C4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3466 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3467 Neighboring gene vascular endothelial growth factor B Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:64007574-64008476 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:64008477-64009377 Neighboring gene uncharacterized LOC114841035 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3469 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64010280-64011180 Neighboring gene PPP1R14B antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3470 Neighboring gene protein phosphatase 1 regulatory inhibitor subunit 14B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3471 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64015853-64016500 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64016501-64017146 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64017147-64017794 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64019089-64019734 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64019735-64020381 Neighboring gene phospholipase C beta 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4892 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4893

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Induction of the FK506-binding protein, FKBP13, under conditions which misfold proteins in the endoplasmic reticulum. Bush KT, et al. Biochem J, 1994 Nov 1. PMID 7526846, Free PMC Article
    2. Localization of the FK506-binding protein, FKBP 13, to the lumen of the endoplasmic reticulum. Nigam SK, et al. Biochem J, 1993 Sep 1. PMID 8373365, Free PMC Article
    3. Chromosomal band assignments of the genes encoding human FKBP12 and FKBP13. DiLella AG, et al. Biochem Biophys Res Commun, 1992 Dec 15. PMID 1281998
    4. Molecular cloning of a membrane-associated human FK506- and rapamycin-binding protein, FKBP-13. Jin YJ, et al. Proc Natl Acad Sci U S A, 1991 Aug 1. PMID 1713687, Free PMC Article
    5. The FK506 binding protein 13 kDa (FKBP13) interacts with the C-chain of complement C1q. Neye H, et al. BMC Pharmacol, 2004 Sep 7. PMID 15353007, Free PMC Article

    See all (40) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. observed changes in activity of six rER-resident PPIases, cyclophilin B (encoded by the PPIB gene), FKBP13 (FKBP2), FKBP19 (FKBP11), FKBP22 (FKBP14), FKBP23 (FKBP7), and FKBP65 (FKBP10), due to posttranslational modifications of proline residues in the substrate.
      Title: Ziploc-ing the structure 2.0: Endoplasmic reticulum-resident peptidyl prolyl isomerases show different activities toward hydroxyproline.
    2. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    4. FKBP13 and FK506 have roles in vesicular trafficking, influencing ADP-ribosylation factor activity through their guanine nucleotide-exchange proteins
      Title: Interaction of FK506-binding protein 13 with brefeldin A-inhibited guanine nucleotide-exchange protein 1 (BIG1): effects of FK506.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables FK506 binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables peptidyl-prolyl cis-trans isomerase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in chaperone-mediated protein folding IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein peptidyl-prolyl isomerization IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    peptidyl-prolyl cis-trans isomerase FKBP2
    Names
    13 kDa FK506-binding protein
    13 kDa FKBP
    FK506 binding protein 2, 13kDa
    FK506-binding protein 2
    PPIase FKBP2
    epididymis secretory sperm binding protein
    immunophilin FKBP13
    proline isomerase
    rapamycin-binding protein
    rotamase
    NP_001128680.1
    NP_001357289.1
    NP_001357291.1
    NP_001357292.1
    NP_001357294.1
    NP_001357296.1
    NP_004461.2
    NP_476433.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001135208.2 → NP_001128680.1  peptidyl-prolyl cis-trans isomerase FKBP2 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001128680.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1 through 6 encode the same isoform.
      Source sequence(s)
      AP001453
      Consensus CDS
      CCDS8063.1
      UniProtKB/Swiss-Prot
      P26885, Q5BJH9, Q9BTS7
      UniProtKB/TrEMBL
      A0A384NLA0, Q53XJ5
      Related
      ENSP00000398147.2, ENST00000449942.6
      Conserved Domains (1) summary
      pfam00254
      Location:42 → 134
      FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase

    2. NM_001370360.1 → NP_001357289.1  peptidyl-prolyl cis-trans isomerase FKBP2 isoform 1 precursor

      Status: REVIEWED

      Source sequence(s)
      AP001453
      Consensus CDS
      CCDS8063.1
      UniProtKB/Swiss-Prot
      P26885, Q5BJH9, Q9BTS7
      UniProtKB/TrEMBL
      A0A384NLA0, Q53XJ5
      Conserved Domains (1) summary
      pfam00254
      Location:42 → 134
      FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase

    3. NM_001370362.1 → NP_001357291.1  peptidyl-prolyl cis-trans isomerase FKBP2 isoform 1 precursor

      Status: REVIEWED

      Source sequence(s)
      AP001453, BC091475, HY148079
      Consensus CDS
      CCDS8063.1
      UniProtKB/Swiss-Prot
      P26885, Q5BJH9, Q9BTS7
      UniProtKB/TrEMBL
      A0A384NLA0, Q53XJ5
      Conserved Domains (1) summary
      pfam00254
      Location:42 → 134
      FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase

    4. NM_001370363.1 → NP_001357292.1  peptidyl-prolyl cis-trans isomerase FKBP2 isoform 1 precursor

      Status: REVIEWED

      Source sequence(s)
      AP001453
      Consensus CDS
      CCDS8063.1
      UniProtKB/Swiss-Prot
      P26885, Q5BJH9, Q9BTS7
      UniProtKB/TrEMBL
      A0A384NLA0, Q53XJ5
      Conserved Domains (1) summary
      pfam00254
      Location:42 → 134
      FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase

    5. NM_001370365.1 → NP_001357294.1  peptidyl-prolyl cis-trans isomerase FKBP2 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AP001453
      Consensus CDS
      CCDS91499.1
      UniProtKB/TrEMBL
      A0A384NLA0, A0A494C1N0
      Related
      ENSP00000499135.1, ENST00000652094.1
      Conserved Domains (1) summary
      pfam00254
      Location:71 → 163
      FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase

    6. NM_001370367.1 → NP_001357296.1  peptidyl-prolyl cis-trans isomerase FKBP2 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AP001453, HY077188
      Conserved Domains (1) summary
      pfam00254
      Location:1 → 81
      FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase

    7. NM_004470.4 → NP_004461.2  peptidyl-prolyl cis-trans isomerase FKBP2 isoform 1 precursor

      See identical proteins and their annotated locations for NP_004461.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1 through 6 variants encode the same isoform.
      Source sequence(s)
      AP001453
      Consensus CDS
      CCDS8063.1
      UniProtKB/Swiss-Prot
      P26885, Q5BJH9, Q9BTS7
      UniProtKB/TrEMBL
      A0A384NLA0, Q53XJ5
      Related
      ENSP00000310935.4, ENST00000309366.9
      Conserved Domains (1) summary
      pfam00254
      Location:42 → 134
      FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase

    8. NM_057092.2 → NP_476433.1  peptidyl-prolyl cis-trans isomerase FKBP2 isoform 1 precursor

      See identical proteins and their annotated locations for NP_476433.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 through 6 encode the same isoform.
      Source sequence(s)
      AW450265, BC003384
      Consensus CDS
      CCDS8063.1
      UniProtKB/Swiss-Prot
      P26885, Q5BJH9, Q9BTS7
      UniProtKB/TrEMBL
      A0A384NLA0, Q53XJ5
      Conserved Domains (1) summary
      pfam00254
      Location:42 → 134
      FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      64241095..64244135
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      64231119..64234159
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P26885.2 GenPept UniProtKB/Swiss-Prot:P26885

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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